Evaluation of Gene Polymorphisms in Patients with Urinary Oxalate Stones: Cross-sectional Study
Year: 2025
Type: article
Study design: Observational Study
Abstract: Fetuin-A, a plasma glycoprotein known for its capacity to inhibit calcification, has not been extensively studied regarding its genetic variability, particularly in relation to kidney stone disease.This study aimed to investigate the association between Fetuin-A gene polymorphisms and renal stone disease and to compare serum Fetuin-A levels between individuals with and without kidney stones.A cross-sectional study was conducted involving 100 kidney stone patients and 100 controls.Two Single Nucleotide Polymorphisms (SNPs) of the fetuin-A gene, c.fet742 C>T (rs4917) and c.fet766 C>G (rs4918), were genotyped using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP).Serum Fetuin-A levels were measured using ELISA.Statistical analysis, including Hardy-Weinberg equilibrium, chi-square tests, linkage disequilibrium, haplotype analysis, and ROC curve analysis, was performed using SPSS version 21, SNP Statonline, and Shesisplus.No significant association was found between the genotypes of the two SNPs and kidney stone disease (χ²=0.0833,p=0.772 and χ²=0.339,p=0.560).Additionally, there was no significant correlation between these SNPs and serum Fetuin-A expression (χ²=0.254,p=0.613 and χ²=2.207,p=0.137).However, serum Fetuin-A levels were significantly lower in kidney stone patients compared to controls (p=0.018).Haplotype analysis revealed no significant differences in the distribution frequencies of the (CC, TG, CG) haplotypes of the fetuin-A SNPs between cases and controls.Strong linkage disequilibrium was observed between the two SNPs (D'=0.93,R²=0.77), indicating a strong co-inheritance of the alleles.To conclude, the study did not find a significant association between Fetuin-A gene polymorphisms and renal stone disease, although serum Fetuin-A levels were lower in individuals with kidney stones.
DOI: 10.54319/jjbs/180106
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4408744071